Canonical Allele Identifier: CA394326675

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140567G>C (hg19) ; chr16:g.2090566G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090566G>C , CM000678.2:g.2090566G>C	GRCh38
NC_000016.9:g.2140567G>C , CM000678.1:g.2140567G>C	GRCh37
NC_000016.8:g.2080568G>C	NCBI36
NG_005895.1:g.46261G>C , LRG_487:g.46261G>C
NG_008617.1:g.52655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12163C>G MANE Select	ENSP00000262304.4:p.Leu4055Val
ENST00000262304.8:c.12163C>G	ENSP00000262304.4:p.Leu4055Val
ENST00000423118.5:c.12160C>G	ENSP00000399501.1:p.Leu4054Val
ENST00000472577.1:n.191C>G
NM_000296.3:c.12160C>G	NP_000287.3:p.Leu4054Val
NM_001009944.2:c.12163C>G	NP_001009944.2:p.Leu4055Val
XM_005255370.2:c.9118C>G	XP_005255427.1:p.Leu3040Val
XM_011522525.1:c.12241C>G	XP_011520827.1:p.Leu4081Val
XM_011522526.1:c.12238C>G	XP_011520828.1:p.Leu4080Val
XM_011522527.1:c.12223C>G	XP_011520829.1:p.Leu4075Val
XM_011522528.1:c.12217C>G	XP_011520830.1:p.Leu4073Val
XM_011522529.1:c.12214C>G	XP_011520831.1:p.Leu4072Val
XM_011522530.1:c.12187C>G	XP_011520832.1:p.Leu4063Val
XM_011522531.1:c.12169C>G	XP_011520833.1:p.Leu4057Val
XM_011522532.1:c.12115C>G	XP_011520834.1:p.Leu4039Val
XM_011522533.1:c.12034C>G	XP_011520835.1:p.Leu4012Val
XM_011522534.1:c.11977C>G	XP_011520836.1:p.Leu3993Val
XM_011522535.1:c.10063C>G	XP_011520837.1:p.Leu3355Val
XM_011522537.1:c.9241C>G	XP_011520839.1:p.Leu3081Val
XR_932867.1:n.12081C>G
XM_005255370.3:c.9118C>G	XP_005255427.1:p.Leu3040Val
XM_011522528.3:c.12217C>G	XP_011520830.1:p.Leu4073Val
XM_011522529.2:c.12214C>G	XP_011520831.1:p.Leu4072Val
XM_011522537.2:c.9241C>G	XP_011520839.1:p.Leu3081Val
XM_024450298.1:c.12283C>G	XP_024306066.1:p.Leu4095Val
XM_024450299.1:c.12211C>G	XP_024306067.1:p.Leu4071Val
XM_024450300.1:c.12073C>G	XP_024306068.1:p.Leu4025Val
XM_024450301.1:c.10159C>G	XP_024306069.1:p.Leu3387Val
NM_000296.4:c.12160C>G	NP_000287.4:p.Leu4054Val
NM_001009944.3:c.12163C>G MANE Select	NP_001009944.3:p.Leu4055Val